(Q30450700)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Esther Arribas-González

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Victoria M James

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Maya Topf

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Seo-Kyung Chung

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Rhys H Thomas

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Francisco Zafra

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Mark I Rees

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Robert J. Harvey

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Beatriz Lopez Corcuera

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Gonzalo Pérez-Siles

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Jaime Martínez-Villarreal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Esperanza Jiménez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Enrique Núñez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Jaime de Juan-Sanz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Enrique Fernández-Sánchez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Noemí García-Tardón

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Ignacio Ibáñez

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Valeria Romanelli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Julián Nevado

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Lourdes R Desviat

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Carmen Aragón

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Pablo Lapunzina

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

29 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

6 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

287

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

28986-29002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

X-ray structures of LeuT in substrate-free outward-open and apo inward-open states

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Endocytosis of the neuronal glycine transporter GLYT2: role of membrane rafts and protein kinase C-dependent ubiquitination.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

External Cu2+ inhibits human epithelial Na+ channels by binding at a subunit interface of extracellular domains.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Zinc in neurotransmission

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

P2Y purinergic regulation of the glycine neurotransmitter transporters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Interactions and Oligomerization of Hantavirus Glycoproteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Protein ionizable groups: pK values and their contribution to protein stability and solubility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Phe27Cys polymorphism alters the maturation and subcellular localization of the human delta opioid receptor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

The genetics of hyperekplexia: more than startle!

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Acid sensing ion channels in dorsal spinal cord neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Clustal W and Clustal X version 2.0

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Glycine transporters: crucial roles of pharmacological interest revealed by gene deletion.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Subunit-dependent high-affinity zinc inhibition of acid-sensing ion channels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Zn2+ ions: modulators of excitatory and inhibitory synaptic activity.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Structure, function and regulation of glycine neurotransporters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Glycine transporter isoforms in the mammalian central nervous system: structures, functions and therapeutic promises

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Molecular Determinants of Proton Modulation of Glycine Receptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

The ASICs: signaling molecules? Modulators?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Effect of sodium lithium and proton concentrations on the electrophysiological properties of the four mouse GABA transporters expressed in Xenopus oocytes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Mutation K448E in the external loop 5 of rat GABA transporter rGAT1 induces pH sensitivity and alters substrate interactions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Functional rescue of the nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutants G185C and R202C by a second site suppressor mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

The role of N-glycosylation in transport to the plasma membrane and sorting of the neuronal glycine transporter GLYT2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Differential properties of two stably expressed brain-specific glycine transporters.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Zinc potentiation of the glycine receptor chloride channel is mediated by allosteric pathways

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Comparative protein modelling by satisfaction of spatial restraints

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Startle disease or hyperekplexia: further delineation of the syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Rapid extracellular pH transients related to synaptic transmission in rat hippocampal slices

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Modification of enzymatically amplified DNA for the detection of point mutations.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.

20 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

The second intracellular loop of the glycine transporter 2 contains crucial residues for glycine transport and phorbol ester-induced regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

An aspartate residue in the external vestibule of GLYT2 (glycine transporter 2) controls cation access and transport coupling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Subcellular localization of the neuronal glycine transporter GLYT2 in brainstem

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Trafficking properties and activity regulation of the neuronal glycine transporter GLYT2 by protein kinase C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Direct evidence that two cysteines in the dopamine transporter form a disulfide bond.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Potentiation of inhibitory glycinergic neurotransmission by Zn2+: a synergistic interplay between presynaptic P2X2 and postsynaptic glycine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Zn2+ inhibits glycine transport by glycine transporter subtype 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Factors governing the protonation state of cysteines in proteins: an Ab initio/CDM study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Glycine transporter dimers: evidence for occurrence in the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Mechanisms of H+ modulation of glycinergic response in rat sacral dorsal commissural neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319244

Molecular basis for proton regulation of glycine transport by glycine transporter subtype 1b.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436537

Acetylcholine receptor dimers are stabilized by extracellular disulfide bonding

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22753417

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

External cysteine residues in the serotonin transporter

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22753417

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular basis of the differential interaction with lithium of glycine transporters GLYT1 and GLYT2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22753417

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M111.319244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

22753417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753417%20AND%20SRC:MED&resulttype=core&format=json